Medical care of adults with Down Syndrome a clinical guideline

Down syndrome is the most common chromosomal condition, and average life expectancy has increased substantially, from 25 years in 1983 to 60 years in 2020. Despite the unique clinical comorbidities among adults with Down syndrome, there are no clinical guidelines for the care of these patients. To develop an evidence-based clinical practice guideline for adults with Down syndrome. The Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup (n = 13) developed 10 Population/Intervention/ Comparison/Outcome (PICO) questions for adults with Down syndrome addressing multiple clinical areas including mental health (2 questions), dementia, screening or treatment of diabetes, cardiovascular disease, obesity, osteoporosis, atlantoaxial instability, thyroid disease, and celiac disease. These questions guided the literature search in MEDLINE, EMBASE, PubMed, PsychINFO, Cochrane Library, and the TRIP Database, searched from January 1, 2000, to February 26, 2018, with an updated search through August 6, 2020. Using the GRADE (Grading of Recommendations, Assessment, Development, and Evaluation) methodology and the Evidence-to-Decision framework, in January 2019, the 13-member Workgroup and 16 additional clinical and scientific experts, nurses, patient representatives, and a methodologist developed clinical recommendations. A statement of good practice was made when there was a high level of certainty that the recommendation would do more good than harm, but there was little direct evidence. From 11 295 literature citations associated with 10 PICO questions, 20 relevant studies were identified. An updated search identified 2 additional studies, for a total of 22 included studies (3 systematic reviews, 19 primary studies), which were reviewed and synthesized. Based on this analysis, 14 recommendations and 4 statements of good practice were developed. Overall, the evidence base was limited. Only 1 strong recommendation was formulated: screening for Alzheimer-type dementia starting at age 40 years. Four recommendations (managing risk factors for cardiovascular disease and stroke prevention, screening for obesity, and evaluation for secondary causes of osteoporosis) agreed with existing guidance for individuals without Down syndrome. Two recommendations for diabetes screening recommend earlier initiation of screening and at shorter intervals given the high prevalence and earlier onset in adults with Down syndrome. These evidence-based clinical guidelines provide recommendations to support primary care of adults with Down syndrome. The lack of high-quality evidence limits the strength of the recommendations and highlights the need for additional research.

Effects of donepezil on cognitive functioning in Down syndrome.

Our goal in this study was to determine whether donepezil, an acetylcholinesterase inhibitor, would improve cognitive functioning in 19 subjects with Down syndrome and no dementia. They were assigned to either a donepezil or placebo group. Cognitive functioning and caregiver ratings were measured at baseline, 4 weeks, and 12 weeks. With the exception of one area (language), no improvement was noted in any of the cognitive subtests, behavioral scores, or caregiver ratings. Subjects in the donepezil group showed an improvement in language scores compared to subjects in the placebo group. The results suggest that donepezil may improve language performance in subjects with Down syndrome and no dementia, but further studies need to be done on a larger group to confirm this result.

Overweight prevalence in persons with Down syndrome.

Prevalence of overweight among the general population has been reported to be 33% for males and 36% for females. We undertook this study to establish overweight prevalence data in a cohort with Down syndrome and to stratify the incidence of overweight by living arrangement. We measured Body Mass Index (BMI) in 283 persons with Down syndrome and found a higher prevalence of overweight in this group compared to the general population. Individuals with Down syndrome living in a family setting had a higher incidence of overweight than did those living in a group home setting. Overweight prevalence among persons with Down syndrome should be considered a major public health concern that warrants further attention from researchers, practitioners, family members, and individuals with Down syndrome.

Predictors of BMI among adults with Down syndrome: the social context of health promotion.

The study explored the relationship of diet, exercise, disability status, and degree of social integration to Body Mass Index, an indicator of excess weight and health status. Subjects were adults with Down syndrome living at home with their families. Variables included a 110-item nutritional analysis and assessments of family demographics, severity of disability, and "lifestyle" variables, such as friendship and affiliation, access to recreation and social activity, and level of physical activity. A factor analysis reduced lifestyle variables into three distinct factors representing friendship, social opportunity, and physical competency. Factor scores were entered into a hierarchical regression model that compared the variance predicted by these factors to the variance accounted for by diet, exercise, and health and physical status variables. Although the overall regression was not statistically significant, the final block of predictors, which represented friendship and social opportunity effects, accounted for a significant increment in BMI variance. Thus, even after the effects of diet, exercise, and physical status variables were partitioned out, the lifestyle variables remained potent predictors of BMI. Study conclusions are described in the context of current paradigms of health in the field of mental retardation and their relationship to inclusion in the community.

Longevity of a woman with Down syndrome: a case study.

A case of a woman who is among the longest surviving people with Down syndrome was described. The life expectancy of persons with Down syndrome has increased more than six-fold to 56 years since the turn of the century. The literature regarding life expectancy for persons with Down syndrome was reviewed, and the implications regarding Down syndrome and Alzheimer's disease were discussed.

Development of a clinic for adults with Down syndrome.

In an effort to better support the adults with Down syndrome that it serves, parents from the National Association for Down Syndrome, a parent organization, worked with staff members from The Family Study and Service Program of the University Affiliated Program for Developmental Disabilities of the University of Illinois and the Department of Family Practice of Lutheran General Hospital to develop a clinic for adults with Down syndrome. The clinic was developed to provide comprehensive health care with an emphasis on preventative services. The multidisciplinary approach of the clinic has proved to be effective in the management of a variety of patient care needs. The most common health problems found were discussed.